Canonical Allele Identifier: CA202238

Gene: PLOD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11949899G>A , CM000663.2:g.11949899G>A	GRCh38
NC_000001.10:g.12009956G>A , CM000663.1:g.12009956G>A	GRCh37
NC_000001.9:g.11932543G>A	NCBI36
NG_008159.1:g.20211G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000196061.5:c.295G>A MANE Select	ENSP00000196061.4:p.Ala99Thr
ENST00000196061.4:c.295G>A	ENSP00000196061.4:p.Ala99Thr
ENST00000358133.5:n.341G>A
ENST00000429000.6:c.295G>A	ENSP00000405372.1:p.Ala99Thr
ENST00000449038.5:c.436G>A	ENSP00000414443.1:p.Ala146Thr
ENST00000485046.5:n.338G>A
NM_000302.3:c.295G>A	NP_000293.2:p.Ala99Thr
NM_001316320.1:c.436G>A	NP_001303249.1:p.Ala146Thr
XM_011541594.1:c.376G>A	XP_011539896.1:p.Ala126Thr
XM_024447707.1:c.-372G>A	XP_024303475.1:n.-372G>A
NM_000302.4:c.295G>A MANE Select	NP_000293.2:p.Ala99Thr
NM_001316320.2:c.436G>A	NP_001303249.1:p.Ala146Thr